NM_000152.5(GAA):c.2417C>T (p.Thr806Met) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Oct 16, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000238987.3

Allele description [Variation Report for NM_000152.5(GAA):c.2417C>T (p.Thr806Met)]

NM_000152.5(GAA):c.2417C>T (p.Thr806Met)

Gene:
GAA:alpha glucosidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.3
Genomic location:
Preferred name:
NM_000152.5(GAA):c.2417C>T (p.Thr806Met)
HGVS:
  • NC_000017.11:g.80117685C>T
  • NG_009822.1:g.21130C>T
  • NM_000152.5:c.2417C>TMANE SELECT
  • NM_001079803.3:c.2417C>T
  • NM_001079804.3:c.2417C>T
  • NP_000143.2:p.Thr806Met
  • NP_001073271.1:p.Thr806Met
  • NP_001073272.1:p.Thr806Met
  • LRG_673t1:c.2417C>T
  • LRG_673:g.21130C>T
  • NC_000017.10:g.78091484C>T
  • NM_000152.3:c.2417C>T
Protein change:
T806M
Links:
dbSNP: rs139850074
NCBI 1000 Genomes Browser:
rs139850074
Molecular consequence:
  • NM_000152.5:c.2417C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079803.3:c.2417C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079804.3:c.2417C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000296876Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphiacriteria provided, single submitter
Uncertain significance
(Oct 16, 2015)
unknownclinical testing

DGD_Variant_Analysis_Guidelines.docx

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia, SCV000296876.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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